Associated Papers
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Analysis of genomic ancestry and characterization of a new variant in MPS type VII.
da Costa AJM et al.
Orphanet Journal of Rare Diseases, 2025
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
Poswar FO et al.
Therapeutics and Clinical Risk Management, 2022
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
Kubaski F et al.
Prenatal Diagnosis, 2017
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM et al.
Journal of Medical Genetics, 2016
Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.
Khan FI et al.
Gene, 2016
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.
Islam MR et al.
Genetic Testing, 2007
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.
Gwynn B et al.
Molecular and Cellular Biology, 1998
Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.
Rafiqul Islam M et al.
Prenatal Diagnosis, 1998
Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.
Ray J et al.
Genomics, 1998
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Vervoort R et al.
Human Genetics, 1998
beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
Islam MR et al.
Human Genetics, 1996
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
Vervoort R et al.
American Journal of Human Genetics, 1995
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